Variants studied for Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
12	28	64	2	0	105

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
ESCO2	12	28	64	2	105

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Fulgent Genetics, Fulgent Genetics	11	28	64	1	104
Clinical Genomics Laboratory, Washington University in St. Louis	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	1
3billion	0	0	0	1	1

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